Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

Sponsor

Albert Einstein College of Medicine (Other)

Overall Status

Recruiting

CT.gov ID

NCT00556530

Collaborator

National Heart, Lung, and Blood Institute (NHLBI) (NIH)

1,000

Enrollment

Locations

132

Duration (Months)

500

Patients Per Site

3.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.

Condition or Disease	Intervention/Treatment	Phase
DiGeorge Syndrome 22q11.2 Deletion Syndrome

Detailed Description

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. Most people with this disorder are missing a sequence of about 3 million DNA building blocks on chromosome 22 within each cell. This disorder affects many areas of the body. People with 22q11.2 deletion syndrome may have heart defects, immune deficiency, kidney abnormalities, hearing loss, and cleft palate or other facial deformities. Many children experience developmental delays and learning disabilities, and they have an increased risk of developing mental illnesses, including schizophrenia, depression, anxiety, and bipolar disorder. All people with 22q11.2 deletion syndrome are missing the same sequence of DNA, but the severity of this disorder varies widely; some people are diagnosed with multiple health and developmental problems, while others experience very few symptoms. In some people, the symptoms may be so minimal that they are not even aware they have 22q11.2 deletion syndrome. This study will examine genetic material-either from blood or saliva-among people with 22q11.2 deletion syndrome. Participants will attend one study visit and undergo either blood or saliva collection. By analyzing the DNA sequences of participants, the study will aim to identify any genetic variations that may affect the severity of 22q11.2 deletion syndrome.

Study Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Family-Based

Time Perspective:

Prospective

Official Title:

Genetic Modifiers of 22q11.2 Deletion Syndrome

Study Start Date :

Jul 1, 2016

Anticipated Primary Completion Date :

Jun 6, 2027

Anticipated Study Completion Date :

Jul 1, 2027

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

Has 22q11 deletion smaller than 3 Mb or no deletion

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Albert Einstein College of Medicine	New York	New York	United States	10461
2	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19139

Sponsors and Collaborators

Albert Einstein College of Medicine
National Heart, Lung, and Blood Institute (NHLBI)

Investigators

Principal Investigator: Bernice E. Morrow, PhD, Albert Einstein College of Medicine, New York

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Bernice Morrow, Professor of Genetics, Albert Einstein College of Medicine

ClinicalTrials.gov Identifier:

NCT00556530

Other Study ID Numbers:

1999-201
R01HL084410

First Posted:

Nov 12, 2007

Last Update Posted:

Jul 19, 2022

Last Verified:

Jul 1, 2022

Keywords provided by Bernice Morrow, Professor of Genetics, Albert Einstein College of Medicine

Congenital Heart Defects

Single Nucleotide Polymorphisms

Copy Number Variations

Whole Genome Association Study

Additional relevant MeSH terms:

DiGeorge Syndrome

Syndrome

Study Results

No Results Posted as of Jul 19, 2022